基于多基因的乳腺癌风险预测与患者管理的关联
Katherine Johansen Taber1, Elisha Hughes1, Alexander Gutin1
1Myriad Genetics, Inc, Salt Lake City, UT.
JCO precision oncology
|May 7, 2025
概括
综合风险得分 (CRS) 提高了乳腺癌风险预测. 具有较高CRS或Tyrer-Cuzick (TC) 评分的患者接受了更频繁的查乳房扫描,乳房MRI和遗传咨询,这表明对CRS结果的临床考虑.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 医疗信息学 医疗信息学
背景情况:
- 乳腺癌 (BC) 风险预测通过将临床和多基因因素结合成综合风险评分 (CRS) 来提高.
- CRS结果对现实世界患者管理策略的影响在很大程度上仍未被描述.
研究的目的:
- 评估综合风险评分 (CRS) 结果如何影响乳腺癌 (BC) 风险的临床管理.
- 评估基于CRS和Tyrer-Cuzick (TC) 风险分层的增强BC查和遗传咨询的采用情况.
主要方法:
- 与BC风险管理评估的TC和CRS结果连接非识别的医疗/药房索赔数据.
- 根据CRS和TC预测的终身风险 (≥20%与<20%) 将患者分为分层分为子队伍.
- 在40岁以下的患者中,查性乳房显微镜 (SM) 的比率,乳房MRI和遗传咨询 (GC) 360天前后CRS测试使用McNemar测试和后勤回归.
主要成果:
- 具有≥20%风险的亚队 (CRS+TC+,CRS+TC-,CRS-TC+) 显示SM (<40岁) 和乳房MRI后CRS测试显著增加.
- 在CRS+TC+和CRS+TC-亚队列中,基因咨询的比例增加.
- 在CRS-TC-亚队列中,这些管理策略没有显著增加,而其他组显示获得增强护理的几率明显更高.
结论:
- 通过CRS或TC确定终身BC风险≥20%的患者更有可能获得增强的治疗.
- 研究结果表明,临床医生积极将CRS结果纳入乳腺癌风险管理决策中.
- 该研究强调了综合风险评分在指导个性化癌症查和预防策略方面的临床实用性.
相关概念视频
Cancer Survival Analysis
308
Cancer survival analysis focuses on quantifying and interpreting the time from a key starting point, such as diagnosis or the initiation of treatment, to a specific endpoint, such as remission or death. This analysis provides critical insights into treatment effectiveness and factors that influence patient outcomes, helping to shape clinical decisions and guide prognostic evaluations. A cornerstone of oncology research, survival analysis tackles the challenges of skewed, non-normally...
308
Combination Therapies and Personalized Medicine
4.8K
Combining two or more treatment methods increases the life span of cancer patients while reducing damage to vital organs or tissue from the overuse of a single treatment. Combination therapy also targets different cancer-inducing pathways, thus reducing the chances of developing resistance to treatment.
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
The combination of the drug acetazolamide and sulforaphane is a good example of combination therapy to treat cancer. The cells in the interior of a large tumor often die due to the hypoxic and...
4.8K
Cancer Prevention
6.0K
Several factors can increase the risk of cancer in an individual. About 50% of cancer cases can be prevented by adopting a healthy lifestyle, regular exercise, eating healthy, and following a modest cancer prevention diet. Epidemiological studies have consistently shown that populations with vegetable and fruit-rich diets have reduced the incidence of cancer. On the other hand, populations who have a diet rich in animal fat, red meat, junk food, or high calories are predisposed to cancer.
Some...
Some...
6.0K
Genome-wide Association Studies-GWAS
12.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
12.2K
Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches
106
Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
106


